Article
Biochemistry & Molecular Biology
Manuel Gentiluomo, Alice Luddi, Annapaola Cingolani, Marco Fornili, Laura Governini, Ersilia Lucenteforte, Laura Baglietto, Paola Piomboni, Daniele Campa
Summary: The study found no significant association between sperm telomere length (STL) and leukocyte telomere length (LTL) with sperm quality parameters, but identified five single nucleotide polymorphisms (SNPs) that were statistically significantly associated with sperm variables. The results suggest moderate involvement of telomere length in male fertility, while indicating the potential pleiotropic effects of certain SNPs on sperm parameters independent of telomere homeostasis.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Biochemistry & Molecular Biology
Filomena Mottola, Marianna Santonastaso, Valentina Ronga, Renata Finelli, Lucia Rocco
Summary: This study investigated the association between polymorphic rearrangements of chromosome 9 and male infertility. The results suggested that these rearrangements might be associated with abnormalities in sperm quality, indicating their potential impact on spermatogenesis regulation.
Review
Genetics & Heredity
Anne-Julie Fattet, Maxime Chaillot, Isabelle Koscinski
Summary: Male factors are involved in around 50% of infertility cases, with up to 40% being diagnosed as idiopathic. It is important to evaluate additional biomarkers for sperm quality, especially considering the increasing use of ART and declining semen parameters. This systematic review selected studies on telomere length as a potential male fertility biomarker. The results suggest that shorter sperm telomeres may be associated with altered semen parameters or male infertility, but further studies are needed to determine its role in assessing individual fertility.
Review
Cell Biology
John Charles Rotondo, Carmen Lanzillotti, Chiara Mazziotta, Mauro Tognon, Fernanda Martini
Summary: Research has shown a correlation between sperm DNA methylation and male infertility, with various genes displaying differential methylation patterns in impaired spermatogenesis and reproductive dysfunction. Specifically, DNA methylation defects in MEST and H19 within imprinted genes, as well as MTHFR within non-imprinted genes, have been linked to male infertility. Further studies are needed to better understand the mechanisms affecting methylation in sperm and its impact on male infertility.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Engineering, Environmental
Zhong-Hua Lu, Bin Sun, Yi-Xin Wang, Ya-Ru Wu, Yu-Jie Chen, Sheng-Zhi Sun, Shi-Jia Liang, Song Xu, Hao Chang, Heng-Gui Chen, Jie Zhang
Summary: The study found a correlation between ambient O3 exposure and sperm quality parameters. O3 exposure was associated with a decrease in sperm telomere length and various sperm quality parameters, but an increase in total motility and progressive motility. The strongest association was observed when exposure was measured during the spermatogenesis stage II. Approximately 9% and 8% of the association between O3 exposure and sperm concentration and count, respectively, was mediated by sperm telomere length.
JOURNAL OF HAZARDOUS MATERIALS
(2023)
Article
Obstetrics & Gynecology
Xi Ling, Haonan Cui, Qing Chen, Wang Yang, Peng Zou, Huan Yang, Niya Zhou, Jiuyang Deng, Jinyi Liu, Jia Cao, Lin Ao
Summary: This study investigates the association between sperm telomere length (STL) and sperm nuclear DNA damage and mitochondrial DNA abnormalities. The results show that STL is related to sperm nuclear DNA integrity and mitochondrial DNA abnormalities in healthy young college students.
HUMAN REPRODUCTION
(2023)
Article
Biochemistry & Molecular Biology
Elena Berg, Petr Houska, Nils Nesheim, Hans-Christian Schuppe, Adrian Pilatz, Monika Fijak, Marc Manthey, Klaus Steger, Florian Wagenlehner, Undraga Schagdarsurengin
Summary: This study compares CP/CPPS patients and healthy volunteers, finding increased sperm DNA fragmentation and abnormal protamine levels in CP/CPPS patients, which have a negative impact on fertility.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Review
Biochemistry & Molecular Biology
Sulagna Dutta, Pallav Sengupta, Sanghamitra Das, Petr Slama, Shubhadeep Roychoudhury
Summary: Reactive nitrogen species (RNS) play important roles in male reproduction, but excessive levels can impair fertility by affecting testicular functions and compromising semen quality. High RNS levels lead to abnormalities in germ cells and gametes, and severely impact maturation and fertilization processes. Conventional semen analyses are not reliable predictors for assisted reproductive technology outcomes in cases of male infertility, highlighting the need for novel assessment and treatment methods.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Obstetrics & Gynecology
Weijian Zhu, Lei Jiang, Yan Li, Junhui Sun, Chunchun Lin, Xuefeng Huang, Wuhua Ni
Summary: This study identified a cluster of comethylated patterns associated with sperm DNA fragmentation (SDF) and found that BRCA1 may be the hub gene involved in sperm DNA damage.
FERTILITY AND STERILITY
(2022)
Review
Urology & Nephrology
Edoardo Pozzi, Ranjith Ramasamy, Andrea Salonia
Summary: The evaluation of male infertility begins with obtaining a detailed medical history and the couple's reproductive and sexual history. Semen analysis is the key component of the male partner evaluation, according to World Health Organization recommendations. A comprehensive physical examination, including assessment of secondary sexual characteristics, is crucial. More complex testing may be needed in selected cases. Hormonal evaluation and genetic testing should be considered for specific conditions. Ultrasound can provide additional information in certain cases. The evaluation of male and female partners should proceed simultaneously to optimize management for infertile couples.
EUROPEAN UROLOGY FOCUS
(2023)
Article
Andrology
Maliheh Afsari, Farzaneh Fesahat, Ali Reza Talebi, Ashok Agarwal, Ralf Henkel, Fatemeh Zare, Murat Gul, Nunzio Iraci, Rossella Cannarella, Masoud Makki, Morteza Anvari, Abolghsem Abbasi Sarcheshmeh, Amir Hossein Talebi
Summary: This study evaluates the expression of genes related to fertilisation potential, embryo development, sperm DNA fragmentation, and acrosome reaction in infertile male partners compared to fertile men. The results show a significant down-regulation of the SP17 gene and significantly higher rates of sperm DNA fragmentation in infertile men.
Review
Endocrinology & Metabolism
Anett Szabo, Szilard Vancsa, Peter Hegyi, Alex Varadi, Attila Forintos, Teodora Filipov, Julia Acs, Nandor Acs, Tibor Szarvas, Peter Nyirady, Zsolt Kopa
Summary: Infertility affects one in six couples in developed countries, with approximately 50% of cases being of male origin. In 2021, sperm DNA fragmentation (SDF) testing became an evidence-based test for fertility evaluations, providing a clearer depiction of fertility compared to standard semen parameters. This study aimed to summarize the potential prognostic factors associated with higher SDF, including male health conditions (such as varicocele, impaired glucose tolerance, and testicular tumors), infections (such as Chlamydia and HPV), and lifestyle factors (such as smoking, age, and pollution).
REPRODUCTIVE BIOLOGY AND ENDOCRINOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Alba Fernandez-Encinas, Jordi Ribas-Maynou, Agustin Garcia-Peiro, Sergio Garcia-Segura, Olga Martinez-Pasarell, Joaquima Navarro, Maria Oliver-Bonet, Jordi Benet
Summary: This study analyzed the effects of antioxidants on sperm proteomic profiles in recurrent miscarriage patients. The results showed that the proteomic profiles before and after antioxidant treatment were similar, but some proteins shifted towards a profile typical of fertile donors after treatment. These findings suggest that antioxidants may improve the expression of certain proteins involved in sperm DNA remodeling.
Article
Biochemistry & Molecular Biology
Kara J. Turner, Eleanor M. Watson, Benjamin M. Skinner, Darren K. Griffin
Summary: Infertility is a growing issue for many couples globally. Current marker tests for male factor infertility are complex and subjective. Research into better diagnostic methods is needed, with potential in morphology and telomere distribution as investigative tools.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Review
Biochemistry & Molecular Biology
Jessica A. Marinaro, Peter N. Schlegel
Summary: Sperm DNA damage is a controversial topic in male reproductive medicine, with limited consensus on its assessment and impact on reproductive outcomes. This article reviews the methods of assessing sperm DNA fragmentation, the evidence regarding its impact on reproductive outcomes, strategies for mitigating high SDF, and the latest practice guidelines for clinicians.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Endocrinology & Metabolism
N. Caretta, P. Facondo, S. Mereu, A. Delbarba, M. C. Crepaldi, M. Vedovato, A. Avogaro, A. Ferlin
Summary: This study evaluates the association between cardiometabolic indices (VAI, TyG, and LAP) and hypogonadism in men with type 2 diabetes, and determines the cut-off values for predicting hypogonadism. The results show that these indices are negatively associated with total testosterone levels and can be used as effective markers for predicting hypogonadism.
JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION
(2023)
Review
Biochemistry & Molecular Biology
Ilaria Cosci, Giuseppe Grande, Andrea Di Nisio, Maria Santa Rocca, Paolo Del Fiore, Clara Benna, Simone Mocellin, Alberto Ferlin
Summary: Cutaneous melanoma, the most aggressive type of skin cancer, has a higher risk and mortality rate in male patients, which may be attributed to sex hormones, immune homeostasis, and oxidative processes. Immune checkpoint inhibitors (ICIs) have emerged as a new therapy, but they may have adverse effects on male fertility and testicular function. Although there is limited and conflicting information on this topic, sperm cryopreservation is recommended for males undergoing ICIs according to the guidelines of the American Society of Clinical Oncology.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Endocrinology & Metabolism
Maria Santa Rocca, Giovanni Minervini, Cinzia Vinanzi, Alberto Bottacin, Federica Lia, Carlo Foresta, Maria Pennuto, Alberto Ferlin
Summary: This study evaluated the frequency and type of androgen receptor (AR) gene variants in a large cohort of infertile males. The study found that patients with AR gene variants had lower sperm count, higher testosterone concentration, and higher androgen sensitivity index compared to patients without variants. Two novel potentially pathogenic AR variants were identified. Based on these findings, AR sequencing is suggested as a routine genetic test in cases of idiopathic oligozoospermia with high testosterone levels.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Article
Biochemistry & Molecular Biology
Luca De Toni, Ilaria Cosci, Iva Sabovic, Andrea Di Nisio, Diego Guidolin, Federica Pedrucci, Federica Finocchi, Stefano Dall'Acqua, Carlo Foresta, Alberto Ferlin, Andrea Garolla
Summary: This study investigated the role of membrane cholesterol (Chol) on ABHD2-mediated human sperm chemotaxis through computational molecular modeling. The results showed that depleting Chol with cyclodextrin (CD) increased sperm migration and motility parameters, while augmenting Chol with CD:Chol had the opposite effects. Thus, Chol was suggested to inhibit P4-mediated sperm function by possibly inhibiting ABHD2.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Review
Endocrinology & Metabolism
Giuseppe Grande, Luca De Toni, Andrea Garolla, Domenico Milardi, Alberto Ferlin
Summary: Metabolomics is used to investigate the molecular mechanisms of specific diseases by analyzing low-molecular-weight metabolites in biological samples. This mini-review focuses on metabolomics studies using ultra-high-performance liquid chromatography-high-resolution mass spectrometry (HRMS) to examine metabolic pathways involved in male hypogonadism and testosterone replacement therapy. It reveals that glycolysis, amino acid degradation, and gluconeogenesis are affected in functional hypogonadism, whereas beta-oxidation of fatty acids is not an energy source. After testosterone replacement therapy, only some metabolites are completely restored, and high levels of ketone bodies are produced in functionally hypogonadal patients, possibly leading to symptoms similar to keto flu.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Review
Endocrinology & Metabolism
Giuseppe Grande, Andrea Graziani, Antonella Di Mambro, Riccardo Selice, Alberto Ferlin
Summary: Low bone mass is common in men with Klinefelter syndrome, with reduced bone formation and higher bone resorption as potential causes. Apart from reduced testosterone levels, other hormonal mechanisms and genetic factors may also contribute to osteoporosis in these individuals. In addition to measuring bone mineral density, assessing trabecular bone score, peripheral quantitative computed tomography, and vertebral morphometry may be useful in estimating fracture risk. This review also discusses treatment options for osteoporosis in men with Klinefelter syndrome.
ENDOCRINE CONNECTIONS
(2023)
Article
Endocrinology & Metabolism
Nicola Caretta, Raffaele Scafa, Andrea Graziani, Maria Cristina Crepaldi, Monica Vedovato, Angelo Avogaro, Alberto Ferlin
Summary: This study evaluated the association between noninvasive indices of hepatic steatosis and hypogonadism in men with type 2 diabetes mellitus (T2DM). The results showed that the Fatty Liver Index (FLI), Hepatic Steatosis Index (HSI), and Dallas Steatosis Index (DSI) were negatively related to total testosterone (TT) and were higher in the low-testosterone group. FLI and DSI were also correlated with clinical symptoms of hypogonadism.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Review
Nutrition & Dietetics
Gabriel Cosmin Petre, Francesco Francini-Pesenti, Amerigo Vitagliano, Giuseppe Grande, Alberto Ferlin, Andrea Garolla
Summary: The use of nutraceutical products for male sexual enhancement, especially in treating erectile dysfunction, has a long history. Alternative treatments for erectile dysfunction are gaining popularity, with increasing interest from consumers and higher revenue for manufacturers. Dietary supplements, which are a combination of active ingredients, are mainly sold online. However, studies have not provided sufficient evidence to consider these products as a first-line therapy, raising doubts about their real effectiveness. A systematic review of the literature identified some nutraceuticals, such as Panax ginseng, Tribulus terrestris, and L-arginine, that can improve male sexual function.
Article
Andrology
Christina Wang, Maria Cristina Meriggiola, John K. Amory, Christopher L. R. Barratt, Hermann M. Behre, William J. Bremner, Alberto Ferlin, Stanton Honig, Zsolt Kopa, Kirk Lo, Eberhard Nieschlag, Stephanie T. Page, Jay Sandlow, Regine Sitruk-Ware, Ronald S. Swerdloff, Frederick C. W. Wu, Dimitrios G. Goulis
Summary: Despite the availability of various contraceptive methods for women, the unintended pregnancy rate remains high. Only 20% of global contraceptive use is male-directed. Introducing efficient and safe male-directed methods is essential to address social changes and gender equality.
Article
Endocrinology & Metabolism
C. Ceolin, A. Scala, M. Dall'Agnol, C. Ziliotto, A. Delbarba, P. Facondo, A. Citron, B. Vescovi, S. Pasqualini, S. Giannini, V. Camozzi, C. Cappelli, A. Bertocco, M. De Rui, A. Coin, G. Sergi, A. Ferlin, A. Garolla
Summary: Preliminary data suggest that bone mineral density (BMD) is lower in transgender adults before initiating gender-affirming hormone therapy (GAHT) compared to cisgender controls. This study examines bone metabolism in transgender adults before GAHT, along with its correlation to biochemical profile, body composition, and lifestyle habits.
JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION
(2023)
Review
Endocrinology & Metabolism
A. Garolla, A. Graziani, G. Grande, C. Ortolani, A. Ferlin
Summary: HPV infection is a common sexually transmitted disease, with more research focused on female diseases. However, understanding HPV-related diseases in males is crucial for clinical practice.
JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION
(2023)
Article
Nutrition & Dietetics
Gabriel Cosmin Petre, Francesco Francini-Pesenti, Andrea Di Nisio, Luca De Toni, Giuseppe Grande, Asia Mingardi, Arianna Cusmano, Paolo Spinella, Alberto Ferlin, Andrea Garolla
Summary: Infertility is a significant issue globally, and diet and lifestyle factors play a crucial role in male reproductive health. The Mediterranean diet has been found to improve sperm quality and increase the probability of normozoospermia.